PTHSL2
MCID: PTT030
MIFTS: 24

Pitt-Hopkins-Like Syndrome 2 (PTHSL2)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pitt-Hopkins-Like Syndrome 2

MalaCards integrated aliases for Pitt-Hopkins-Like Syndrome 2:

Name: Pitt-Hopkins-Like Syndrome 2 57 75 29 13 6 40 73
Pthsl2 57 75
Mesh; D006985 75
Mesh; D008607 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
three patients have been reported (as of february 2012)


HPO:

32
pitt-hopkins-like syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pitt-Hopkins-Like Syndrome 2

UniProtKB/Swiss-Prot : 75 Pitt-Hopkins-like syndrome 2: A syndrome characterized by severe mental retardation and variable additional symptoms, such as impaired speech development, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt- Hopkins syndrome. Other features include decreased reflexes in the upper extremities, constipation, strabismus, and protruding tongue with drooling. In contrast to patients with Pitt-Hopkins syndrome, PTHSL2 patients present with normal or only mildly to moderately delayed motor milestones.

MalaCards based summary : Pitt-Hopkins-Like Syndrome 2, also known as pthsl2, is related to pitt-hopkins-like syndrome 1 and pitt-hopkins syndrome, and has symptoms including constipation and breath-holding spell. An important gene associated with Pitt-Hopkins-Like Syndrome 2 is NRXN1 (Neurexin 1). Affiliated tissues include tongue, and related phenotypes are constipation and developmental regression

Description from OMIM: 614325

Related Diseases for Pitt-Hopkins-Like Syndrome 2

Diseases in the Pitt-Hopkins Syndrome family:

Pitt-Hopkins-Like Syndrome 1 Pitt-Hopkins-Like Syndrome 2
Pitt-Hopkins-Like Syndrome

Diseases related to Pitt-Hopkins-Like Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pitt-hopkins-like syndrome 1 11.3
2 pitt-hopkins syndrome 11.3
3 pitt-hopkins-like syndrome 9.7 LOC101927089 NRXN1

Symptoms & Phenotypes for Pitt-Hopkins-Like Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
poor feeding

Head And Neck Eyes:
strabismus

Respiratory:
hyperventilation
breath-holding spells

Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral abnormalities
self-harming behaviors

Neurologic Peripheral Nervous System:
hyporeflexia in the upper limbs

Skeletal Spine:
scoliosis

Head And Neck Mouth:
protruding tongue
drooling
broad mouth

Neurologic Central Nervous System:
hypotonia
mental retardation, severe
developmental regression after the first year
epileptic encephalopathy (in 2 of 3 patients)
broad-based gait (1 patient)
more
Cardiovascular Heart:
pulmonary stenosis

Endocrine Features:
early-onset puberty (in 2 of 3 patients)


Clinical features from OMIM:

614325

Human phenotypes related to Pitt-Hopkins-Like Syndrome 2:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 constipation 32 HP:0002019
2 developmental regression 32 HP:0002376
3 scoliosis 32 HP:0002650
4 gastroesophageal reflux 32 HP:0002020
5 intellectual disability, severe 32 HP:0010864
6 feeding difficulties 32 HP:0011968
7 strabismus 32 HP:0000486
8 wide mouth 32 HP:0000154
9 protruding tongue 32 HP:0010808
10 pulmonic stenosis 32 HP:0001642
11 generalized hypotonia 32 HP:0001290
12 drooling 32 HP:0002307
13 epileptic encephalopathy 32 frequent (33%) HP:0200134
14 broad-based gait 32 occasional (7.5%) HP:0002136
15 hyperventilation 32 HP:0002883

UMLS symptoms related to Pitt-Hopkins-Like Syndrome 2:


constipation, breath-holding spell

Drugs & Therapeutics for Pitt-Hopkins-Like Syndrome 2

Search Clinical Trials , NIH Clinical Center for Pitt-Hopkins-Like Syndrome 2

Genetic Tests for Pitt-Hopkins-Like Syndrome 2

Genetic tests related to Pitt-Hopkins-Like Syndrome 2:

# Genetic test Affiliating Genes
1 Pitt-Hopkins-Like Syndrome 2 29 NRXN1

Anatomical Context for Pitt-Hopkins-Like Syndrome 2

MalaCards organs/tissues related to Pitt-Hopkins-Like Syndrome 2:

41
Tongue

Publications for Pitt-Hopkins-Like Syndrome 2

Variations for Pitt-Hopkins-Like Syndrome 2

ClinVar genetic disease variations for Pitt-Hopkins-Like Syndrome 2:

6 (show top 50) (show all 326)
# Gene Variation Type Significance SNP ID Assembly Location
1 NRXN1 NRXN1, 180-KB DEL, EX1-4 deletion Pathogenic
2 NRXN1 NM_001135659.2(NRXN1): c.3056C> G (p.Ser1019Ter) single nucleotide variant Pathogenic rs267606922 GRCh37 Chromosome 2, 50723177: 50723177
3 NRXN1 NM_001135659.2(NRXN1): c.3056C> G (p.Ser1019Ter) single nucleotide variant Pathogenic rs267606922 GRCh38 Chromosome 2, 50496039: 50496039
4 NRXN1 NRXN1, 79-KB DEL deletion Pathogenic
5 NRXN1 NRXN1, 287-KB DEL deletion Pathogenic
6 NRXN1 NM_001135659.2(NRXN1): c.105C> A (p.Gly35=) single nucleotide variant Conflicting interpretations of pathogenicity rs55640811 GRCh37 Chromosome 2, 51255307: 51255307
7 NRXN1 NM_001135659.2(NRXN1): c.105C> A (p.Gly35=) single nucleotide variant Conflicting interpretations of pathogenicity rs55640811 GRCh38 Chromosome 2, 51028169: 51028169
8 NRXN1 NM_001135659.2(NRXN1): c.1405C> T (p.Pro469Ser) single nucleotide variant Benign/Likely benign rs78540316 GRCh37 Chromosome 2, 50847195: 50847195
9 NRXN1 NM_001135659.2(NRXN1): c.1405C> T (p.Pro469Ser) single nucleotide variant Benign/Likely benign rs78540316 GRCh38 Chromosome 2, 50620057: 50620057
10 NRXN1 NM_001135659.2(NRXN1): c.2242C> A (p.Leu748Ile) single nucleotide variant Benign/Likely benign rs56086732 GRCh37 Chromosome 2, 50765412: 50765412
11 NRXN1 NM_001135659.2(NRXN1): c.2242C> A (p.Leu748Ile) single nucleotide variant Benign/Likely benign rs56086732 GRCh38 Chromosome 2, 50538274: 50538274
12 NRXN1 NM_001135659.2(NRXN1): c.2505C> G (p.Pro835=) single nucleotide variant Conflicting interpretations of pathogenicity rs147984237 GRCh37 Chromosome 2, 50733745: 50733745
13 NRXN1 NM_001135659.2(NRXN1): c.2505C> G (p.Pro835=) single nucleotide variant Conflicting interpretations of pathogenicity rs147984237 GRCh38 Chromosome 2, 50506607: 50506607
14 NRXN1 NM_001135659.2(NRXN1): c.2541C> T (p.Asn847=) single nucleotide variant Conflicting interpretations of pathogenicity rs115211871 GRCh37 Chromosome 2, 50733709: 50733709
15 NRXN1 NM_001135659.2(NRXN1): c.2541C> T (p.Asn847=) single nucleotide variant Conflicting interpretations of pathogenicity rs115211871 GRCh38 Chromosome 2, 50506571: 50506571
16 NRXN1 NM_001135659.2(NRXN1): c.2725C> A (p.Leu909Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201818223 GRCh37 Chromosome 2, 50724745: 50724745
17 NRXN1 NM_001135659.2(NRXN1): c.2725C> A (p.Leu909Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201818223 GRCh38 Chromosome 2, 50497607: 50497607
18 NRXN1 NM_001135659.2(NRXN1): c.2850G> A (p.Lys950=) single nucleotide variant Conflicting interpretations of pathogenicity rs192909520 GRCh37 Chromosome 2, 50724620: 50724620
19 NRXN1 NM_001135659.2(NRXN1): c.2850G> A (p.Lys950=) single nucleotide variant Conflicting interpretations of pathogenicity rs192909520 GRCh38 Chromosome 2, 50497482: 50497482
20 NRXN1 NM_001135659.2(NRXN1): c.3165C> T (p.Ala1055=) single nucleotide variant Conflicting interpretations of pathogenicity rs56402642 GRCh37 Chromosome 2, 50723068: 50723068
21 NRXN1 NM_001135659.2(NRXN1): c.3165C> T (p.Ala1055=) single nucleotide variant Conflicting interpretations of pathogenicity rs56402642 GRCh38 Chromosome 2, 50495930: 50495930
22 NRXN1 NM_001135659.2(NRXN1): c.322C> T (p.Pro108Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs199784029 GRCh37 Chromosome 2, 51255090: 51255090
23 NRXN1 NM_001135659.2(NRXN1): c.322C> T (p.Pro108Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs199784029 GRCh38 Chromosome 2, 51027952: 51027952
24 NRXN1 NM_001135659.2(NRXN1): c.3249A> G (p.Val1083=) single nucleotide variant Conflicting interpretations of pathogenicity rs200698497 GRCh37 Chromosome 2, 50699551: 50699551
25 NRXN1 NM_001135659.2(NRXN1): c.3249A> G (p.Val1083=) single nucleotide variant Conflicting interpretations of pathogenicity rs200698497 GRCh38 Chromosome 2, 50472413: 50472413
26 NRXN1 NM_001135659.2(NRXN1): c.4053A> G (p.Ala1351=) single nucleotide variant Benign/Likely benign rs79970751 GRCh37 Chromosome 2, 50280604: 50280604
27 NRXN1 NM_001135659.2(NRXN1): c.4053A> G (p.Ala1351=) single nucleotide variant Benign/Likely benign rs79970751 GRCh38 Chromosome 2, 50053466: 50053466
28 NRXN1 NM_001135659.2(NRXN1): c.790C> A (p.Gln264Lys) single nucleotide variant Uncertain significance rs367919055 GRCh37 Chromosome 2, 51253590: 51253590
29 NRXN1 NM_001135659.2(NRXN1): c.790C> A (p.Gln264Lys) single nucleotide variant Uncertain significance rs367919055 GRCh38 Chromosome 2, 51026452: 51026452
30 NRXN1 NM_001135659.2(NRXN1): c.1278+5A> T single nucleotide variant Conflicting interpretations of pathogenicity rs201802152 GRCh37 Chromosome 2, 50848338: 50848338
31 NRXN1 NM_001135659.2(NRXN1): c.1278+5A> T single nucleotide variant Conflicting interpretations of pathogenicity rs201802152 GRCh38 Chromosome 2, 50621200: 50621200
32 NRXN1 NM_001135659.2(NRXN1): c.3369C> T (p.Pro1123=) single nucleotide variant Conflicting interpretations of pathogenicity rs116236999 GRCh37 Chromosome 2, 50692695: 50692695
33 NRXN1 NM_001135659.2(NRXN1): c.3369C> T (p.Pro1123=) single nucleotide variant Conflicting interpretations of pathogenicity rs116236999 GRCh38 Chromosome 2, 50465557: 50465557
34 NRXN1 NM_001135659.2(NRXN1): c.3528G> A (p.Thr1176=) single nucleotide variant Benign/Likely benign rs80094872 GRCh37 Chromosome 2, 50464065: 50464065
35 NRXN1 NM_001135659.2(NRXN1): c.3528G> A (p.Thr1176=) single nucleotide variant Benign/Likely benign rs80094872 GRCh38 Chromosome 2, 50236927: 50236927
36 NRXN1 NM_001135659.2(NRXN1): c.4188G> A (p.Thr1396=) single nucleotide variant Benign/Likely benign rs74714098 GRCh37 Chromosome 2, 50280469: 50280469
37 NRXN1 NM_001135659.2(NRXN1): c.4188G> A (p.Thr1396=) single nucleotide variant Benign/Likely benign rs74714098 GRCh38 Chromosome 2, 50053331: 50053331
38 NRXN1 NM_001135659.2(NRXN1): c.4374A> G (p.Pro1458=) single nucleotide variant Conflicting interpretations of pathogenicity rs55923848 GRCh37 Chromosome 2, 50149352: 50149352
39 NRXN1 NM_001135659.2(NRXN1): c.4374A> G (p.Pro1458=) single nucleotide variant Conflicting interpretations of pathogenicity rs55923848 GRCh38 Chromosome 2, 49922214: 49922214
40 NRXN1 NM_001135659.2(NRXN1): c.871+9G> A single nucleotide variant Benign/Likely benign rs61658382 GRCh37 Chromosome 2, 51253500: 51253500
41 NRXN1 NM_001135659.2(NRXN1): c.871+9G> A single nucleotide variant Benign/Likely benign rs61658382 GRCh38 Chromosome 2, 51026362: 51026362
42 NRXN1 NM_001135659.2(NRXN1): c.999C> T (p.Pro333=) single nucleotide variant Benign/Likely benign rs2303298 GRCh37 Chromosome 2, 50850686: 50850686
43 NRXN1 NM_001135659.2(NRXN1): c.999C> T (p.Pro333=) single nucleotide variant Benign/Likely benign rs2303298 GRCh38 Chromosome 2, 50623548: 50623548
44 NRXN1 NM_001135659.2(NRXN1): c.897G> A (p.Ala299=) single nucleotide variant Benign/Likely benign rs201027928 GRCh37 Chromosome 2, 51149818: 51149818
45 NRXN1 NM_001135659.2(NRXN1): c.897G> A (p.Ala299=) single nucleotide variant Benign/Likely benign rs201027928 GRCh38 Chromosome 2, 50922680: 50922680
46 NRXN1 NM_001135659.2(NRXN1): c.4356C> T (p.Gly1452=) single nucleotide variant Conflicting interpretations of pathogenicity rs587781101 GRCh37 Chromosome 2, 50149370: 50149370
47 NRXN1 NM_001135659.2(NRXN1): c.4356C> T (p.Gly1452=) single nucleotide variant Conflicting interpretations of pathogenicity rs587781101 GRCh38 Chromosome 2, 49922232: 49922232
48 NRXN1 NM_001135659.2(NRXN1): c.4395G> T (p.Arg1465=) single nucleotide variant Conflicting interpretations of pathogenicity rs143495349 GRCh37 Chromosome 2, 50149331: 50149331
49 NRXN1 NM_001135659.2(NRXN1): c.4395G> T (p.Arg1465=) single nucleotide variant Conflicting interpretations of pathogenicity rs143495349 GRCh38 Chromosome 2, 49922193: 49922193
50 NRXN1 NM_001135659.2(NRXN1): c.4512T> C (p.His1504=) single nucleotide variant Conflicting interpretations of pathogenicity rs112536447 GRCh37 Chromosome 2, 50149214: 50149214

Expression for Pitt-Hopkins-Like Syndrome 2

Search GEO for disease gene expression data for Pitt-Hopkins-Like Syndrome 2.

Pathways for Pitt-Hopkins-Like Syndrome 2

GO Terms for Pitt-Hopkins-Like Syndrome 2

Sources for Pitt-Hopkins-Like Syndrome 2

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